thyroid dyshormonogenesis 1

(redirected from thyroid hormonogenesis, genetic defect in, 1)

thyroid dyshormonogenesis 1

An endocrinopathy (OMIM:274400) characterised by the inability of the thyroid to maintain a concentration gradient of readily exchangeable iodine between the plasma and the thyroid gland, leading to congenital hypothyroidism.

Molecular pathologyDefects of SLC5A5, which encodes a sodium-iodide cotransporter that mediates iodide uptake in the thyroid, cause thyroid dyshormonogenesis 1.

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